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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXT1

Variant:p.I92delFs

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EXT1

NM_000127.3:p.I92delFs

hg38:chr8:118110771 GA>G

Associated Papers

Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort.

Adanur Saglam K et al.

European Journal of Pediatrics, 2025

41076472 (PubMed )

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